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Protein

Protein kinase C-binding protein NELL1

Gene

NELL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Plays a role in the control of cell growth and differentiation. Promotes osteoblast cell differentiation and terminal mineralization.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processDifferentiation
LigandCalcium

Names & Taxonomyi

Protein namesi
Recommended name:
Protein kinase C-binding protein NELL1
Alternative name(s):
NEL-like protein 1
Nel-related protein 1
Gene namesi
Name:NELL1
Synonyms:NRP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000165973.17
HGNCiHGNC:7750 NELL1
MIMi602319 gene
neXtProtiNX_Q92832

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus, Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi4745
OpenTargetsiENSG00000165973
PharmGKBiPA31552

Polymorphism and mutation databases

BioMutaiNELL1
DMDMi311033486

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000000766422 – 810Protein kinase C-binding protein NELL1Add BLAST789

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi40N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi83N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi224N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi294N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi372N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi395 ↔ 407PROSITE-ProRule annotation
Disulfide bondi401 ↔ 416PROSITE-ProRule annotation
Disulfide bondi418 ↔ 432PROSITE-ProRule annotation
Disulfide bondi438 ↔ 451PROSITE-ProRule annotation
Disulfide bondi445 ↔ 460PROSITE-ProRule annotation
Disulfide bondi462 ↔ 474PROSITE-ProRule annotation
Disulfide bondi480 ↔ 493PROSITE-ProRule annotation
Disulfide bondi487 ↔ 502PROSITE-ProRule annotation
Disulfide bondi504 ↔ 515PROSITE-ProRule annotation
Glycosylationi511N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi519 ↔ 529PROSITE-ProRule annotation
Disulfide bondi523 ↔ 535PROSITE-ProRule annotation
Disulfide bondi537 ↔ 546PROSITE-ProRule annotation
Disulfide bondi553 ↔ 566PROSITE-ProRule annotation
Disulfide bondi560 ↔ 575PROSITE-ProRule annotation
Glycosylationi562N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi577 ↔ 594PROSITE-ProRule annotation
Disulfide bondi600 ↔ 613PROSITE-ProRule annotation
Disulfide bondi607 ↔ 622PROSITE-ProRule annotation
Glycosylationi609N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi624 ↔ 630PROSITE-ProRule annotation
Glycosylationi708N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi732N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi758N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ92832
PeptideAtlasiQ92832
PRIDEiQ92832
ProteomicsDBi75509
75510 [Q92832-2]

PTM databases

iPTMnetiQ92832
PhosphoSitePlusiQ92832
SwissPalmiQ92832

Expressioni

Gene expression databases

BgeeiENSG00000165973 Expressed in 116 organ(s), highest expression level in stomach
CleanExiHS_NELL1
HS_NRP1
ExpressionAtlasiQ92832 baseline and differential
GenevisibleiQ92832 HS

Organism-specific databases

HPAiHPA051535

Interactioni

Subunit structurei

Homotrimer. Binds to PKC beta-1 (By similarity). Interacts with ATRAID; the interaction promotes osteoblast cell differentiation and mineralization.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ATRAIDQ6UW564EBI-947754,EBI-723802

Protein-protein interaction databases

BioGridi110820, 26 interactors
IntActiQ92832, 18 interactors
MINTiQ92832
STRINGi9606.ENSP00000349654

Structurei

3D structure databases

ProteinModelPortaliQ92832
SMRiQ92832
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini64 – 227Laminin G-likeAdd BLAST164
Domaini271 – 332VWFC 1PROSITE-ProRule annotationAdd BLAST62
Domaini434 – 475EGF-like 1; calcium-bindingPROSITE-ProRule annotationAdd BLAST42
Domaini476 – 516EGF-like 2; calcium-bindingPROSITE-ProRule annotationAdd BLAST41
Domaini517 – 547EGF-like 3PROSITE-ProRule annotationAdd BLAST31
Domaini549 – 587EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST39
Domaini596 – 631EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini692 – 750VWFC 2PROSITE-ProRule annotationAdd BLAST59

Keywords - Domaini

EGF-like domain, Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IR7C Eukaryota
ENOG410XSZA LUCA
GeneTreeiENSGT00810000125439
HOGENOMiHOG000217920
HOVERGENiHBG004805
InParanoidiQ92832
PhylomeDBiQ92832
TreeFamiTF323325

Family and domain databases

InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR024731 EGF_dom
IPR009030 Growth_fac_rcpt_cys_sf
IPR001791 Laminin_G
IPR001007 VWF_dom
PfamiView protein in Pfam
PF12947 EGF_3, 1 hit
PF07645 EGF_CA, 3 hits
PF00093 VWC, 2 hits
SMARTiView protein in SMART
SM00181 EGF, 6 hits
SM00179 EGF_CA, 5 hits
SM00282 LamG, 1 hit
SM00210 TSPN, 1 hit
SM00214 VWC, 4 hits
SM00215 VWC_out, 2 hits
SUPFAMiSSF49899 SSF49899, 1 hit
SSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 3 hits
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 3 hits
PS01208 VWFC_1, 2 hits
PS50184 VWFC_2, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92832-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPMDLILVVW FCVCTARTVV GFGMDPDLQM DIVTELDLVN TTLGVAQVSG
60 70 80 90 100
MHNASKAFLF QDIEREIHAA PHVSEKLIQL FRNKSEFTIL ATVQQKPSTS
110 120 130 140 150
GVILSIRELE HSYFELESSG LRDEIRYHYI HNGKPRTEAL PYRMADGQWH
160 170 180 190 200
KVALSVSASH LLLHVDCNRI YERVIDPPDT NLPPGINLWL GQRNQKHGLF
210 220 230 240 250
KGIIQDGKII FMPNGYITQC PNLNHTCPTC SDFLSLVQGI MDLQELLAKM
260 270 280 290 300
TAKLNYAETR LSQLENCHCE KTCQVSGLLY RDQDSWVDGD HCRNCTCKSG
310 320 330 340 350
AVECRRMSCP PLNCSPDSLP VHIAGQCCKV CRPKCIYGGK VLAEGQRILT
360 370 380 390 400
KSCRECRGGV LVKITEMCPP LNCSEKDHIL PENQCCRVCR GHNFCAEGPK
410 420 430 440 450
CGENSECKNW NTKATCECKS GYISVQGDSA YCEDIDECAA KMHYCHANTV
460 470 480 490 500
CVNLPGLYRC DCVPGYIRVD DFSCTEHDEC GSGQHNCDEN AICTNTVQGH
510 520 530 540 550
SCTCKPGYVG NGTICRAFCE EGCRYGGTCV APNKCVCPSG FTGSHCEKDI
560 570 580 590 600
DECSEGIIEC HNHSRCVNLP GWYHCECRSG FHDDGTYSLS GESCIDIDEC
610 620 630 640 650
ALRTHTCWND SACINLAGGF DCLCPSGPSC SGDCPHEGGL KHNGQVWTLK
660 670 680 690 700
EDRCSVCSCK DGKIFCRRTA CDCQNPSADL FCCPECDTRV TSQCLDQNGH
710 720 730 740 750
KLYRSGDNWT HSCQQCRCLE GEVDCWPLTC PNLSCEYTAI LEGECCPRCV
760 770 780 790 800
SDPCLADNIT YDIRKTCLDS YGVSRLSGSV WTMAGSPCTT CKCKNGRVCC
810
SVDFECLQNN
Length:810
Mass (Da):89,635
Last modified:November 2, 2010 - v4
Checksum:i15E09F9954DA8629
GO
Isoform 2 (identifier: Q92832-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     549-595: Missing.

Show »
Length:763
Mass (Da):84,377
Checksum:i995411ADB36FAD7D
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNC5J3KNC5_HUMAN
NEL-like 1 (Chicken), isoform CRA_a
NELL1 hCG_1811036
838Annotation score:
F5H6I3F5H6I3_HUMAN
Protein kinase C-binding protein NE...
NELL1
753Annotation score:

Sequence cautioni

The sequence AAB06946 differs from that shown. Reason: Frameshift at positions 426 and 771.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti383N → D in AAB06946 (Ref. 7) Curated1
Sequence conflicti573Y → H in AAB06946 (Ref. 7) Curated1
Sequence conflicti626S → C in AAB06946 (Ref. 7) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04782882R → Q4 PublicationsCorresponds to variant dbSNP:rs8176785Ensembl.1
Natural variantiVAR_047829211F → V. Corresponds to variant dbSNP:rs35809043Ensembl.1
Natural variantiVAR_047830287V → I. Corresponds to variant dbSNP:rs11820003Ensembl.1
Natural variantiVAR_020167354R → W. Corresponds to variant dbSNP:rs8176786Ensembl.1
Natural variantiVAR_035834553C → F in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_039954549 – 595Missing in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83017 mRNA Translation: BAA11680.1
AK313445 mRNA Translation: BAG36234.1
EU518937 Genomic DNA Translation: ACB21040.1
AC010811 Genomic DNA No translation available.
AC067794 Genomic DNA No translation available.
AC069575 Genomic DNA No translation available.
AC087279 Genomic DNA No translation available.
AC090707 Genomic DNA No translation available.
AC090857 Genomic DNA No translation available.
AC099730 Genomic DNA No translation available.
AC105190 Genomic DNA No translation available.
AC108460 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68328.1
BC069674 mRNA Translation: AAH69674.1
BC096100 mRNA Translation: AAH96100.1
BC096101 mRNA Translation: AAH96101.1
BC096102 mRNA Translation: AAH96102.1
U57523 mRNA Translation: AAB06946.1 Frameshift.
CCDSiCCDS44555.1 [Q92832-2]
CCDS7855.1 [Q92832-1]
RefSeqiNP_001275642.1, NM_001288713.1
NP_001275643.1, NM_001288714.1
NP_006148.2, NM_006157.4 [Q92832-1]
NP_963845.1, NM_201551.2 [Q92832-2]
UniGeneiHs.657172

Genome annotation databases

EnsembliENST00000357134; ENSP00000349654; ENSG00000165973 [Q92832-1]
ENST00000532434; ENSP00000437170; ENSG00000165973 [Q92832-2]
GeneIDi4745
KEGGihsa:4745
UCSCiuc001mqe.5 human [Q92832-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D83017 mRNA Translation: BAA11680.1
AK313445 mRNA Translation: BAG36234.1
EU518937 Genomic DNA Translation: ACB21040.1
AC010811 Genomic DNA No translation available.
AC067794 Genomic DNA No translation available.
AC069575 Genomic DNA No translation available.
AC087279 Genomic DNA No translation available.
AC090707 Genomic DNA No translation available.
AC090857 Genomic DNA No translation available.
AC099730 Genomic DNA No translation available.
AC105190 Genomic DNA No translation available.
AC108460 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW68328.1
BC069674 mRNA Translation: AAH69674.1
BC096100 mRNA Translation: AAH96100.1
BC096101 mRNA Translation: AAH96101.1
BC096102 mRNA Translation: AAH96102.1
U57523 mRNA Translation: AAB06946.1 Frameshift.
CCDSiCCDS44555.1 [Q92832-2]
CCDS7855.1 [Q92832-1]
RefSeqiNP_001275642.1, NM_001288713.1
NP_001275643.1, NM_001288714.1
NP_006148.2, NM_006157.4 [Q92832-1]
NP_963845.1, NM_201551.2 [Q92832-2]
UniGeneiHs.657172

3D structure databases

ProteinModelPortaliQ92832
SMRiQ92832
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110820, 26 interactors
IntActiQ92832, 18 interactors
MINTiQ92832
STRINGi9606.ENSP00000349654

PTM databases

iPTMnetiQ92832
PhosphoSitePlusiQ92832
SwissPalmiQ92832

Polymorphism and mutation databases

BioMutaiNELL1
DMDMi311033486

Proteomic databases

PaxDbiQ92832
PeptideAtlasiQ92832
PRIDEiQ92832
ProteomicsDBi75509
75510 [Q92832-2]

Protocols and materials databases

DNASUi4745
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357134; ENSP00000349654; ENSG00000165973 [Q92832-1]
ENST00000532434; ENSP00000437170; ENSG00000165973 [Q92832-2]
GeneIDi4745
KEGGihsa:4745
UCSCiuc001mqe.5 human [Q92832-1]

Organism-specific databases

CTDi4745
DisGeNETi4745
EuPathDBiHostDB:ENSG00000165973.17
GeneCardsiNELL1
H-InvDBiHIX0009505
HGNCiHGNC:7750 NELL1
HPAiHPA051535
MIMi602319 gene
neXtProtiNX_Q92832
OpenTargetsiENSG00000165973
PharmGKBiPA31552
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IR7C Eukaryota
ENOG410XSZA LUCA
GeneTreeiENSGT00810000125439
HOGENOMiHOG000217920
HOVERGENiHBG004805
InParanoidiQ92832
PhylomeDBiQ92832
TreeFamiTF323325

Miscellaneous databases

ChiTaRSiNELL1 human
GeneWikiiNELL1
GenomeRNAii4745
PROiPR:Q92832
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165973 Expressed in 116 organ(s), highest expression level in stomach
CleanExiHS_NELL1
HS_NRP1
ExpressionAtlasiQ92832 baseline and differential
GenevisibleiQ92832 HS

Family and domain databases

InterProiView protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR024731 EGF_dom
IPR009030 Growth_fac_rcpt_cys_sf
IPR001791 Laminin_G
IPR001007 VWF_dom
PfamiView protein in Pfam
PF12947 EGF_3, 1 hit
PF07645 EGF_CA, 3 hits
PF00093 VWC, 2 hits
SMARTiView protein in SMART
SM00181 EGF, 6 hits
SM00179 EGF_CA, 5 hits
SM00282 LamG, 1 hit
SM00210 TSPN, 1 hit
SM00214 VWC, 4 hits
SM00215 VWC_out, 2 hits
SUPFAMiSSF49899 SSF49899, 1 hit
SSF57184 SSF57184, 1 hit
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 3 hits
PS00022 EGF_1, 1 hit
PS01186 EGF_2, 3 hits
PS50026 EGF_3, 5 hits
PS01187 EGF_CA, 3 hits
PS01208 VWFC_1, 2 hits
PS50184 VWFC_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiNELL1_HUMAN
AccessioniPrimary (citable) accession number: Q92832
Secondary accession number(s): B2CKC1
, Q4VB90, Q4VB91, Q6NSY8, Q9Y472
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 2, 2010
Last modified: September 12, 2018
This is version 173 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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Main funding by: National Institutes of Health

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